Results 61 to 70 of about 3,806 (220)

Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation? [PDF]

, 2010
Background: ICF syndrome (standing for Immunodeficiency, Centromere instability and Facial anomalies syndrome) is a very rare autosomal recessive immune disorder caused by mutations of the gene de novo DNAmethyltransferase 3B (DNMT3B).
Anja Weise, Anna Polityko, Heidemarie Neitzel, Holger Tönnies, Irina Naumchik, Karl Sperling, Nadezda Kosyakova, Natalia Rumyantseva, Olga Khurs, Thomas Liehr   +9 more
core   +2 more sources

Novel Generation‐Skipping Inheritance Pattern of Marfan Syndrome Due to FBN1 Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in the fibrillin‐1 (FBN1) gene on Chromosome 15q21.1. A 3‐year‐old female presented to the clinic with MFS and a family history of an affected maternal uncle and maternal great‐aunt.
Breanna Beers, Hamilton Wexler, Gretchen MacCarrick, Aneek Das Bhowmik   +3 more
wiley   +1 more source

Bilateral acute angle closure glaucoma as a presentation of isolated microspherophakia in an adult: case report [PDF]

, 2006
Background Bilateral simultaneous angle closure glaucoma is a rare entity. To our knowledge this is the first reported case of bilateral acute angle-closure glaucoma secondary to isolated microspherophakia in an adult.
Sushmita Kaushik, Nishant Sachdev, Surinder Singh Pandav, Amod Gupta, Jagat Ram, JT Banta, JE Craig, MH de Guzman, H Ates, R Srinivasan, JL Pecora, JC Merritt, KW Wright, PL Macken, LB Nelson, GJ Johnson, VP Johnson, LA Probert, J Urbanek, A Kanamori, S Khokhar, T Yasar, S Fanous, F Gonzalez, CE Willoughby, R Asaoka   +25 more
core   +2 more sources

Camptodactyly and Early‐Onset Scoliosis in Snijders Blok–Campeau Syndrome

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Snijders Blok–Campeau syndrome is caused by a heterozygous CHD3 pathogenic variant, and characterized by features including macrocephaly, speech delay, hypotonia, and joint laxity. In the hereby‐presented case, a Japanese girl with Snijders Blok–Campeau syndrome displayed bilateral middle finger camptodactyly and early‐onset scoliosis, beyond the ...
Masaki Miura, Yu Kobayashi, Moemi Hojo, Kei Yamada, Hitomi Fujii, Keiko Eimori, Kumiko Yanagi, Tadashi Kaname, Keisuke Nagasaki, Hiromi Nyuzuki, Takeshi Ikeuchi, Jun Tohyama, Irfan Ahmad   +12 more
wiley   +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism

Annals of Neurology, Volume 98, Issue 5, Page 932-950, November 2025.
Objective Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating variants in the autophagy gene EPG5 have been associated with Vici syndrome, a severe early‐onset neurodevelopmental
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian, Zita Suprenant, Ay Lin Kho, Neil J Ingham, Karen P Steel, Preethi Sheshadri, Franciska Baur, Lea Hentrich, Birgit Gerisch, Mina Zamani, Cesar Alves, Ata Siddiqui, Haidar S Dafsari, Mehri Salari, Anthony E. Lang, Michael Harris, Alice Abdelaleem, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Gholamreza Shariati, Alireza Sedaghat, Jawaher Zeighami, Daniel Calame, Dana Marafi, Ruizhi Duan, Adrian Boehnke, Gary D. Clark, Jill A. Rosenfeld, Carrie A. Mohila, Dora Steel, Saurabh Chopra, Suvasini Sharma, Nicolai Kohlschmidt, Steffi Patzer, Afshin Saffari, Darius Ebrahimi‐Fakhari, Büşra Eser Çavdartepe, Irene J Chang, Erika Beckman, Renate Peters, Andrew Paul Fennell, Bernice Lo, Luisa Averdunk, Felix Distelmaier, Martina Baethmann, Frances Elmslie, Kairit Joost, Sheela Nampoothiri, Dhanya Yesodharan, Hanna Mandel, Amy Kimball, Antonie D. Kline, Cyril Mignot, Boris Keren, Vincent Laugel, Katrin Õunap, Kalpana Devadathan, Frederique M.C. van Berkestijn, Arpana Silwal, Saskia Koene, Sumit Verma, Mohammed Yousuf Karim, Chahynez Boubidi, Majid Aziz, Gehad ElGhazali, Lauren Mattas, Mohammad Miryounesi, Farzad Hashemi‐Gorji, Shahryar Alavi, Nayereh Nouri, Mehrdad Noruzinia, Saeideh Kavousi, Arveen Kamath, Sandeep Jayawant, Russell Saneto, Nourelhoda A. Haridy, Pinar Ozkan Kart, Ali Cansu, Madeleine Joubert, Claire Beneteau, Kyra E. Stuurman, Martina Wilke, Tahsin Stefan Barakat, Homa Tajsharghi, Annarita Scardamaglia, Sadeq Vallian, Semra Hız, Ali Shoeibi, Reza Boostani, Narges Hashemi, Meisam Babaei, Norah Saleh Alsaleh, Julie Porter, Tania Attié‐Bitach, Pauline Marzin, Dorota Wicher, Jessica I. Gold, Elisabeth Schuler, Amna Kashgari, Rakan F. Alanazi, Wafaa Eyaid, Marc Engelen, Mirjam Langeveld, Burkhard Stüve, Yun Li, Gökhan Yigit, Bernd Wollnik, Mariana H.G Monje, Dimitri Krainc, Niccolò E. Mencacci, Somayeh Bakhtiari, Michael Kruer, Emanuela Argilli, Elliott Sherr, Yalda Jamshidi, Ehsan Ghayoor Karimiani, Yiu Wing Sunny Cheung, Ivan Karin, Giovanni Zifarelli, Peter Bauer, Wendy K Chung, James R. Lupski, Manju A. Kurian, Jörg Dötsch, Jürgen‐Christoph von Kleist‐Retzow, Thomas Klopstock, Matias Wagner, Calvin Yip, Andreas Roos, Rita Carsetti, Carlo Dionisi‐Vici, Mathias Gautel, Michael R Duchen, Adam Antebi, Henry Houlden, Manolis Fanto, Heinz Jungbluth   +140 more
wiley   +1 more source

Candidate gene linkage analysis indicates genetic heterogeneity in Marfan syndrome [PDF]

, 2011
Marfan syndrome (MFS) is an autosomal dominant disease of the connective tissue that affects the ocular, skeletal and cardiovascular systems, with a wide clinical variability.
Ana Beatriz Alvarez, Mandelbaum, Karina Lezirovitz, Pereira, L.v., Teixeira, L.v.s.   +3 more
core   +3 more sources

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source

Congenital malformations [PDF]

, 2012
Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. Their global birth prevalence is about 2–3%.
CORSELLO, Giovanni, GIUFFRE, Mario
core   +1 more source

Intraoperative Neurophysiological Monitoring in Patients With Marfan Syndrome Scoliosis

Orthopaedic Surgery, Volume 17, Issue 11, Page 3109-3115, November 2025.
This study assessed intraoperative neurophysiological monitoring (IONM) efficacy in patients with Marfan syndrome‐associated scoliosis during posterior spinal fusion, showing 89.8% SEP and 92.4% MEP success rates. MFS patients with larger Cobb angles of the main curve and larger DAR values at pre‐operation suffer a higher risk of failed IONM monitoring.
Kaiyi Cao, Wanyou Liu, Junyin Qiu, Yinkun Li, Zezhang Zhu, Yong Qiu, Benlong Shi   +6 more
wiley   +1 more source